S. Hickey

发表

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

David T. Miller, L. Demmer, M. Scheuner, 2020, Genetics in Medicine.

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

R. Wilson, D. Koboldt, K. McBride, 2020, Cold Spring Harbor molecular case studies.

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11

R. Pyatt, S. Hashimoto, Christine M Shuss, 2017, American journal of medical genetics. Part A.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Donna M. Martin, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2017, American journal of human genetics.

Type IA Oromandibular-Limb Hypogenesis Syndrome: A Case Report and A Case Update

S. Hickey, A. Scott, J. Grischkan, 2022, Cureus.

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

J. Rosenfeld, B. V. van Bon, B. D. de Vries, 2021, Genes.

A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.

S. Hashimoto, Christine M Shuss, Mariana Kekis, 2016, European journal of medical genetics.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.

D. Bartholomew, J. Mytinger, S. Hickey, 2014, JIMD reports.

Epidemiology of bleeding symptoms and hypermobile Ehlers‐Danlos syndrome in paediatrics

B. Kerlin, S. Hickey, E. Varga, 2016, Haemophilia : the official journal of the World Federation of Hemophilia.

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).

Joshua L. Deignan, E. Thorland, E. Riggs, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy

Maeson S. Latsko, R. Wilson, D. Koboldt, 2022, Cold Spring Harbor molecular case studies.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

D. Koboldt, T. Kleefstra, H. van Bokhoven, 2022, American journal of medical genetics. Part A.

Reflex sympathetic dystrophy: misdiagnosis in patients with dysfunctional postures of the upper extremity.

A. Bruner, M. Kasdan, S. Hickey, 2000, The Journal of hand surgery.

Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy

S. Hickey, C. Astbury, C. Cozzi, 2013, Case reports in endocrinology.

Cerebral organoids containing an AUTS2 missense variant model microcephaly

R. Wilson, D. Koboldt, K. McBride, 2022, medRxiv.

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Michael F. Wangler, J. Lupski, D. Krainc, 2021, Annals of neurology.

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

J. Gastier-Foster, J. Atkin, S. Hickey, 2013, European journal of medical genetics.

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Ivan K. Chinn, L. Notarangelo, J. Franco, 2023, Journal of Clinical Immunology.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

David T. Miller, L. Demmer, M. Scheuner, 2020, Genetics in Medicine.

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

R. Pyatt, G. Herman, Emily Hansen-Kiss, 2019, European journal of medical genetics.

Yield of Additional Genetic Testing after Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

S. Schwartz, David T. Miller, C. Morton, 2018, Genetics in Medicine.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree

R. Wilson, D. Koboldt, K. McBride, 2019, Cold Spring Harbor molecular case studies.

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.

J. Gusella, C. Morton, M. Talkowski, 2016, Human molecular genetics.

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

S. Schwartz, David T. Miller, C. Martin, 2018, Genetics in Medicine.

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

Daniel C. Koboldt, Peter White, Benjamin J. Kelly, 2018, Cold Spring Harbor molecular case studies.

Malingering by proxy: a form of pediatric condition falsification.

M. Kasdan, S. Hickey, J. Stutts, 2003, Journal of developmental and behavioral pediatrics : JDBP.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Michael M. Khayat, Magalie S Leduc, J. Rosenfeld, 2018, bioRxiv.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2016, American journal of human genetics.

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

J. Gastier-Foster, R. Pyatt, S. Hashimoto, 2014, European journal of medical genetics.

Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome - A Cross-sectional Investigation.

R. Kirschner, J. Stanek, S. Hickey, 2021, The Journal of pediatrics.

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

R. Wilson, D. Koboldt, K. McBride, 2019, European Journal of Human Genetics.

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

Anup D. Patel, J. Gastier-Foster, S. Santoro, 2020, European Journal of Medical Genetics.

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

C. Curry, H. Toriello, S. Hickey, 2013, Genetics in Medicine.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

R. Pyatt, S. Hashimoto, S. Santoro, 2017, Cytogenetic and Genome Research.

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

B. D. de Vries, S. Küry, J. Martinez-Agosto, 2023, American journal of medical genetics. Part A.

Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

R. Pyatt, T. Prior, P. Snyder, 2013, American journal of medical genetics. Part A.

Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Mai‐Lan Ho, R. Kirschner, S. Hickey, 2022, Clinical case reports.

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome

R. Wilson, D. Koboldt, P. White, 2021, Cold Spring Harbor molecular case studies.

Hypomorphic alleles pose challenges in rare disease genomic variant interpretation

D. Koboldt, K. McBride, P. White, 2021, Clinical genetics.

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

J. Gastier-Foster, R. Pyatt, J. Atkin, 2013, European journal of medical genetics.

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome

R. Kirschner, S. Santoro, S. Hickey, 2020, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

J. Lupski, S. Lalani, Matteo P. Ferla, 2023, Brain : a journal of neurology.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

R. Pyatt, S. Hashimoto, S. Santoro, 2017, Cytogenetic and Genome Research.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2023, Genetics in Medicine.

Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant.

D. Koboldt, Kristy Lee, S. Rosenzweig, 2022, Rheumatology.